| Gene Symbol | ent-gene-adb197b4 |
| Chromosome | 20q13.33 |
| Function | 1. Vector: Recombinant AAV (serotype to be determined — AAV9, AAV-PHP.eB, or engineered) |
| Onset | Early infancy (first week to months of life), often within the neonatal period |
| Seizure types | Focal seizures, tonic seizures, epileptic spasms, often multifocal |
| EEG patterns | Burst-suppression pattern is common in the neonatal period |
| Developmental outcome | Variable — from severe intellectual disability to milder developmental delay |
| Associated features | Hypotonia, movement disorders, cortical visual impairment |
| Prognosis | Variable outcome; some patients achieve ambulation and speech, others have severe ID |
| Gene | KCNQ2 (potassium voltage-gated channel subfamily Q member 2), located on chromosome 20q13.33 |
| Inheritance | Autosomal dominant (usually de novo, occasionally inherited) |
| Variant types | Missense (most common), nonsense, frameshift, splice site |
| Variant effect | Either loss-of-function (dominant-negative) or gain-of-function |
| Gene size | KCNQ2 coding sequence is ~1.6kb — fits easily within AAV capacity (~4.7kb) |
| Prevalence | Approximately 1 in 50,000-100,000 live births |
| Gender distribution | Equal male/female |
| KG Connections | 4 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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